Assessment 2 Case Study (LO.2 and LO.3)
In this assessment I am going to be writing a case study on Rose. Rose is the youngest of five children, she has one sister and three brothers. Rose has been diagnosed with a rare chromosome deletion on her 22nd chromosome, it is called 22q13 deletion syndrome also known as Phelan Mcdermid syndrome after the doctors Katy Phelan and Heather Mcdermid who first discovered this syndrome whilst studying chromosome 22 and the effect that deletions and mutations has on individuals in the early 1990's the first person diagnosed was in 1996, currently there are only approximately one thousand people around the world diagnosed, and only one hundred approximately in the uk. It is thought to be massively under diagnosed at present. Phelan Mcdermid syndrome affects individuals by causing disabilities in different ways depending on the size of the deletion, where the deletion is on the 22nd chromosome and other genes in that region that are are affected. Phelan Mcdermid syndrome affects the people diagnosed in differing ways mainly it affects the individual's speech, a majority of those diagnosed with Phelan Mcdermid syndrome are completely non verbal, it affects mobility ranging from a person never being able to walk or learning at a later stage than would be the usual, it also can cause feeding problems and some people affected suffer from seizures. Rose has a smaller deletion and so her disability is on the milder end of the spectrum. Phelan Mcdermid syndrome affects Rose's speech ability, also her muscles are weaker and she has coordination problems, she is diagnosed with dyspraxia, and has also recently been diagnosed with autism. Phelan Mcdermid syndrome is a genetic cause of autism. In my opinion although it is a genetic disability that Rose has I feel that there are also nature and nurture issues also involved. I think that as Rose has been encouraged to communicate and also